Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6467
CYP21A2
0.925 0.320 6 32039081 missense variant C/A;G;T snv 0.64; 2.3E-03 2
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 6
rs137852769
GAREM2 ; HADHA
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03 4
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs34002892
GNPTAB
0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 8
rs140430952
TGDS
1.000 0.120 13 94590868 missense variant C/A;T snv 3.3E-04; 2.9E-05 2
rs1341894581
ECEL1
0.925 2 232486499 frameshift variant ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG/- delins 3.3E-04 1.1E-04 3
rs121909283
NODAL
0.882 0.120 10 70435399 stop gained C/A;T snv 3.1E-04 4
rs121908171
RAB23
0.925 0.080 6 57194817 stop gained A/T snv 2.8E-04 3.6E-04 3
rs121434407
LOC101929270 ; GLE1
0.882 0.120 9 128536414 missense variant G/A snv 2.7E-04 9.8E-05 5
rs147001633
DNMT3A
0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 7
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 9
rs200426926
THOC6 ; BICDL2
0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 13
rs150940923
THOC6
1.000 0.240 16 3027170 missense variant G/C snv 1.8E-04 2.0E-04 3
rs138632121
THOC6 ; HCFC1R1
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs201108965
TMEM216
0.851 0.320 11 61393965 missense variant G/A;T snv 8.0E-06; 1.7E-04 5
rs387907022
TRMU
0.925 22 46353829 missense variant G/A snv 1.7E-04 1.1E-04 3
rs766667249
PIGQ
1.000 16 578912 inframe deletion ACT/- delins 1.5E-04 1.1E-04 3
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs147462227
PRF1
1.000 0.040 10 70600458 missense variant C/T snv 1.4E-04 7.0E-05 2
rs137853229
RECQL4
0.851 0.240 8 144513412 stop gained G/A snv 1.2E-04 8.4E-05 5
rs121918550
AAAS
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05 5
rs80338677
MAN2B1
0.925 0.080 19 12655693 splice donor variant C/G snv 9.3E-05 7.7E-05 4
rs121918374
PYCR1
0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05 4